A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
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Abstract
A patient affected by Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia is reported. Molecular studies of the GLUT2 gene led to the identification of a novel mutation of the glucose transporter.
Bibliographical data
| Original language | German |
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| Article number | 2 |
| ISSN | 0141-8955 |
| Publication status | Published - 2004 |
| pubmed | 15243984 |
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